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Mie Inaba

Brain-derived neurotrophic factor-mediated retrograde signaling required for the induction of long-term potentiation at inhibitory synapses of visual cortical pyramidal neurons
2008 · Tsuyoshi Inagaki, Tahamina Begum, et al. · Neuroscience Research · 59
A Novel Caspr Mutation Causes the Shambling Mouse Phenotype by Disrupting Axoglial Interactions of Myelinated Nerves
2009 · Xiao-yang Sun, Yoshiko Takagishi, et al. · Journal of Neuropathology & Experimental Neurology · 40
Involvement of T‐type Ca2+channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortex
2008 · Yumiko Yoshimura, Mie Inaba, et al. · European Journal of Neuroscience · 30
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation
2018 · Daisuke Fukushi, Kenichiro Yamada, et al. · Gene · 24
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1
2017 · Toshiki Takenouchi, Mie Inaba, et al. · American Journal of Medical Genetics Part A · 24
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)
2017 · Yasuyo Suzuki, Yasushi Enokido, et al. · Oncotarget · 24
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Facilitation of low-frequency stimulation-induced long-term potentiation by endogenous noradrenaline and serotonin in developing rat visual cortex
2009 · Mie Inaba, Takuro Maruyama, et al. · Neuroscience Research · 22
Mowat-Wilson syndrome: growth charts
2020 · Ivan Ivanovski, Olivera Djuric, et al. · Orphanet Journal of Rare Diseases · 20
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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood
2018 · Kohji Kato, Seiji Mizuno, et al. · Brain and Development · 19
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures
2020 · Hisato Suzuki, Mie Inaba, et al. · American Journal of Medical Genetics Part A · 18
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
2020 · Yasunobu Nosaki, Ken Ohyama, et al. · Epilepsy & Behavior Reports · 8
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R3HDM1 haploinsufficiency is associated with mild intellectual disability
2021 · Daisuke Fukushi, Mie Inaba, et al. · American Journal of Medical Genetics Part A · 5
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
2024 · Mamiko Yamada, Seiji Mizuno, et al. · American Journal of Medical Genetics Part A · 2
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Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome
2023 · Yasuyo Suzuki, Noriko Nomura, et al. · European Journal of Medical Genetics · 2
Atypical Sotos syndrome caused by a novel splice site variant
2022 · Mari Minatogawa, Taichi Tsuji, et al. · Human Genome Variation · 2
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Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis
2026 · Natsuki Nakamura, Yosuke Nishio, et al. · Molecular Genetics & Genomic Medicine
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Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening
2026 · Yuka Nakano, Hisato Suzuki, et al. · iScience
Compound heterozygosity of EXOSC2 ‘missense’ variants causes a bi-allelic decrease in protein expression through novel unexpected pathomechanisms
2026 · Shin Hayashi, Kenichiro Yamada, et al. · Research Square
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A cace of Cohen syndrome:Exome sequencing showed a deletion of exons &a nonsense mutation in VPS13B .
2017 · Mie Inaba · Japanese Society of Child Neurology
Effect of direct or indirect inhibitors of the PI3K/AKT/mTOR signaling pathway on cultured fibroblast from PIK3CA -related overgrowth spectrum (PROS) patient
2016 · Y. Suzuki, Yasushi Enokido, et al. · The Molecular Biology Society of Japan
NMDA receptor blockade during monocular deprivation prevents the maintenance of ocular dominance shift produced by the deprivation
2007 · Mie Inaba, Yumiko Yoshimura, et al. · Neuroscience Research
Works count: 29
Citation count: 299
H-index: 10
I10-index: 10
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